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Actin mutations are one cause of congenital fibre type disproportion.
Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I. Laing NG, et al. Among authors: nonaka i. Ann Neurol. 2004 Nov;56(5):689-94. doi: 10.1002/ana.20260. Ann Neurol. 2004. PMID: 15468086
Congenital fiber type disproportion myopathy caused by LMNA mutations.
Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK. Kajino S, et al. Among authors: nonaka i. J Neurol Sci. 2014 May 15;340(1-2):94-8. doi: 10.1016/j.jns.2014.02.036. Epub 2014 Mar 5. J Neurol Sci. 2014. PMID: 24642510
694 results